Ali Torkamani
Ali Torkamani
Director at SRTI, Associate Professor at Scripps Research
Verified email at
Cited by
Cited by
Identification of ALK as a major familial neuroblastoma predisposition gene
YP Mossť, M Laudenslager, L Longo, KA Cole, A Wood, EF Attiyeh, ...
Nature 455 (7215), 930-935, 2008
The personal and clinical utility of polygenic risk scores
A Torkamani, NE Wineinger, EJ Topol
Nature Reviews Genetics 19 (9), 581-590, 2018
Statistical analysis strategies for association studies involving rare variants
V Bansal, O Libiger, A Torkamani, NJ Schork
Nature Reviews Genetics 11 (11), 773-785, 2010
Pathway analysis of seven common diseases assessed by genome-wide association
A Torkamani, EJ Topol, NJ Schork
Genomics 92 (5), 265-272, 2008
Kinase mutations in human disease: interpreting genotype–phenotype relationships
P Lahiry, A Torkamani, NJ Schork, RA Hegele
Nature Reviews Genetics 11 (1), 60-74, 2010
A primer on deep learning in genomics
J Zou, M Huss, A Abid, P Mohammadi, A Torkamani, A Telenti
Nature genetics 51 (1), 12-18, 2019
All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs
AJ Schork, WK Thompson, P Pham, A Torkamani, JC Roddey, PF Sullivan, ...
PLoS Genet 9 (4), e1003449, 2013
The importance of phase information for human genomics
R Tewhey, V Bansal, A Torkamani, EJ Topol, NJ Schork
Nature Reviews Genetics 12 (3), 215-223, 2011
CCCTC-binding factor (CTCF) and cohesin influence the genomic architecture of the Igh locus and antisense transcription in pro-B cells
SC Degner, J Verma-Gaur, TP Wong, C Bossen, GM Iverson, ...
Proceedings of the National Academy of Sciences 108 (23), 9566-9571, 2011
Whole-genome sequencing of a healthy aging cohort
GA Erikson, DL Bodian, M Rueda, B Molparia, ER Scott, ...
Cell 165 (4), 1002-1011, 2016
Reshaping antibody diversity
F Wang, DC Ekiert, I Ahmad, W Yu, Y Zhang, O Bazirgan, A Torkamani, ...
Cell 153 (6), 1379-1393, 2013
Coexpression network analysis of neural tissue reveals perturbations in developmental processes in schizophrenia
A Torkamani, B Dean, NJ Schork, EA Thomas
Genome research 20 (4), 403-412, 2010
Influence of donor age on induced pluripotent stem cells
VL Sardo, W Ferguson, GA Erikson, EJ Topol, KK Baldwin, A Torkamani
Nature biotechnology 35 (1), 69-74, 2017
Efficient and sequence-independent replication of DNA containing a third base pair establishes a functional six-letter genetic alphabet
DA Malyshev, K Dhami, HT Quach, T Lavergne, P Ordoukhanian, ...
Proceedings of the National Academy of Sciences 109 (30), 12005-12010, 2012
High-definition medicine
A Torkamani, KG Andersen, SR Steinhubl, EJ Topol
Cell 170 (5), 828-843, 2017
Digital medical tools and sensors
EJ Topol, SR Steinhubl, A Torkamani
Jama 313 (4), 353-354, 2015
High-performance web services for querying gene and variant annotation
J Xin, A Mark, C Afrasiabi, G Tsueng, M Juchler, N Gopal, GS Stupp, ...
Genome biology 17 (1), 1-7, 2016
Identification of rare cancer driver mutations by network reconstruction
A Torkamani, NJ Schork
Genome research 19 (9), 1570-1578, 2009
De novo KCNB1 mutations in epileptic encephalopathy
A Torkamani, K Bersell, BS Jorge, RL Bjork Jr, JR Friedman, CS Bloss, ...
Annals of neurology 76 (4), 529-540, 2014
Regulation of the B cell receptor repertoire and self-reactivity by BAFF
M Ota, BH Duong, A Torkamani, CM Doyle, AL Gavin, T Ota, D Nemazee
The Journal of Immunology 185 (7), 4128-4136, 2010
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